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The cone dysfunction syndromes. Br J Ophthalmol 2016 Jan;100(1):115-21 PMID: 25770143 PMCID: PMC4717370

Pubmed ID

25770143

DOI

10.1136/bjophthalmol-2014-306505

Abstract

The cone dysfunction syndromes are a heterogeneous group of inherited, predominantly stationary retinal disorders characterised by reduced central vision and varying degrees of colour vision abnormalities, nystagmus and photophobia. This review details the following conditions: complete and incomplete achromatopsia, blue-cone monochromatism, oligocone trichromacy, bradyopsia and Bornholm eye disease. We describe the clinical, psychophysical, electrophysiological and imaging findings that are characteristic to each condition in order to aid their accurate diagnosis, as well as highlight some classically held notions about these diseases that have come to be challenged over the recent years. The latest data regarding the genetic aetiology and pathological changes observed in the cone dysfunction syndromes are discussed, and, where relevant, translational avenues of research, including completed and anticipated interventional clinical trials, for some of the diseases described herein will be presented. Finally, we briefly review the current management of these disorders.

Author List

Aboshiha J, Dubis AM, Carroll J, Hardcastle AJ, Michaelides M

Author

Joseph J. Carroll PhD Director, Professor in the Ophthalmology and Visual Sciences department at Medical College of Wisconsin




Scopus

2-s2.0-84952638972   34 Citations

MESH terms used to index this publication - Major topics in bold

Color Vision Defects
Genotype
Humans
Phenotype
Retinal Cone Photoreceptor Cells
Retinal Diseases
Syndrome
jenkins-FCD Prod-353 9ccd8489072cb19f5b9f808bb23ed672c582f41e